Mutagenetix > Incidental Mutation

Incidental Mutation 'R6344:Ugt3a1'

514071

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6344 (G1)

Quality Score

157.009

Status

Not validated

Chromosome

Chromosomal Location

9276888-9315032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 9306231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 155 (E155D)

Ref Sequence

ENSEMBL: ENSMUSP00000022861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022861]

AlphaFold

Q3UP75

Predicted Effect

probably damaging
Transcript: ENSMUST00000022861
AA Change: E155D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: E155D

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:UDPGT	23	521	1.4e-98	PFAM
Pfam:Glyco_tran_28_C	300	451	3.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176173

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.3%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,437,694	P707L	probably damaging	Het
Bbip1	A	G	19: 53,931,481	V23A	probably benign	Het
Bdnf	A	T	2: 109,723,677	Y132F	probably benign	Het
C4bp	T	C	1: 130,656,015	D72G	probably benign	Het
Cdcp1	T	A	9: 123,182,382	K343N	possibly damaging	Het
Cep112	A	T	11: 108,519,174	Y472F	probably damaging	Het
Cops2	A	T	2: 125,858,979		probably benign	Het
Cyp27a1	T	C	1: 74,736,849		probably null	Het
Dnah7a	T	C	1: 53,397,190	I3998V	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dnhd1	A	G	7: 105,694,610	I1720M	probably benign	Het
Fkbpl	A	G	17: 34,645,570	K104R	probably damaging	Het
Helq	G	T	5: 100,766,728	A966E	probably benign	Het
Iba57	G	A	11: 59,158,293	P350L	probably damaging	Het
Iqgap3	T	C	3: 88,082,094		probably null	Het
Kcnj9	A	G	1: 172,326,146	V137A	probably benign	Het
Kif19a	G	A	11: 114,781,951		probably null	Het
Kmt2a	A	T	9: 44,821,859		probably benign	Het
Lilra5	T	A	7: 4,238,786	F195I	probably damaging	Het
Mcm9	A	G	10: 53,537,937	I349T	probably benign	Het
Mlst8	A	G	17: 24,477,326	L143P	probably damaging	Het
Mrc1	T	C	2: 14,244,174	F174L	probably damaging	Het
Muc5b	T	A	7: 141,862,971	L3218Q	possibly damaging	Het
Myo1h	A	G	5: 114,328,715	S275G	probably damaging	Het
Myo5a	T	A	9: 75,160,509	V615D	probably benign	Het
Myo9b	T	C	8: 71,327,914	L485P	probably damaging	Het
Nav1	A	G	1: 135,450,796	Y1646H	probably damaging	Het
Nsf	A	T	11: 103,861,904	V539D	probably damaging	Het
Nutm1	A	T	2: 112,248,902	N889K	possibly damaging	Het
Olfr133	C	T	17: 38,148,720	A44V	probably benign	Het
Olfr543	A	G	7: 102,477,531	L113P	probably damaging	Het
Pcdhga2	T	A	18: 37,670,762	V553E	probably benign	Het
Pkmyt1	T	C	17: 23,732,756	S95P	possibly damaging	Het
Ranbp2	T	A	10: 58,483,886		probably null	Het
Saxo2	T	A	7: 82,634,865	I262F	probably damaging	Het
Sco1	C	T	11: 67,055,745	R115W	probably damaging	Het
Slc27a3	G	T	3: 90,387,654	Y330*	probably null	Het
Slc6a4	C	T	11: 77,018,254	T364I	probably damaging	Het
Slit2	A	G	5: 48,219,681	I388V	probably benign	Het
Smc6	C	A	12: 11,297,106		probably benign	Het
Snx25	C	T	8: 46,035,638	W747*	probably null	Het
Stard9	T	A	2: 120,704,320	M3686K	probably benign	Het
Syne1	T	C	10: 5,022,212	D8732G	probably benign	Het
Tcaf3	A	G	6: 42,597,171	S36P	possibly damaging	Het
Trpv6	T	C	6: 41,625,422		probably null	Het
Tspear	T	C	10: 77,875,013	F490L	possibly damaging	Het
Ttn	A	G	2: 76,721,852	I31147T	probably damaging	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Washc2	G	T	6: 116,258,758	Q977H	probably benign	Het
Yars2	T	A	16: 16,303,035	W18R	probably benign	Het

Other mutations in Ugt3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00912:Ugt3a1	APN	15	9310612	missense	probably damaging	1.00
IGL01752:Ugt3a1	APN	15	9306146	missense	probably damaging	1.00
IGL02438:Ugt3a1	APN	15	9291976	missense	possibly damaging	0.90
PIT4354001:Ugt3a1	UTSW	15	9306360	nonsense	probably null
R0127:Ugt3a1	UTSW	15	9306256	missense	probably benign	0.01
R0647:Ugt3a1	UTSW	15	9310549	missense	probably benign	0.00
R0841:Ugt3a1	UTSW	15	9306128	missense	probably benign	0.07
R1395:Ugt3a1	UTSW	15	9306292	missense	possibly damaging	0.92
R1616:Ugt3a1	UTSW	15	9306244	nonsense	probably null
R2338:Ugt3a1	UTSW	15	9291973	splice site	probably benign
R3797:Ugt3a1	UTSW	15	9310641	nonsense	probably null
R4305:Ugt3a1	UTSW	15	9306274	missense	possibly damaging	0.92
R4385:Ugt3a1	UTSW	15	9306479	missense	probably benign	0.15
R4572:Ugt3a1	UTSW	15	9306393	missense	probably benign	0.00
R4611:Ugt3a1	UTSW	15	9306400	nonsense	probably null
R4744:Ugt3a1	UTSW	15	9310553	missense	probably benign	0.36
R5715:Ugt3a1	UTSW	15	9306344	missense	probably damaging	0.96
R6036:Ugt3a1	UTSW	15	9306086	missense	probably benign	0.01
R6036:Ugt3a1	UTSW	15	9306086	missense	probably benign	0.01
R6156:Ugt3a1	UTSW	15	9310676	missense	possibly damaging	0.83
R6228:Ugt3a1	UTSW	15	9310640	missense	possibly damaging	0.81
R6380:Ugt3a1	UTSW	15	9306455	missense	probably benign	0.00
R6383:Ugt3a1	UTSW	15	9306455	missense	probably benign	0.00
R6737:Ugt3a1	UTSW	15	9311809	missense	probably benign	0.30
R6848:Ugt3a1	UTSW	15	9280052	splice site	probably null
R6937:Ugt3a1	UTSW	15	9292072	missense	probably benign	0.00
R7061:Ugt3a1	UTSW	15	9306154	missense	probably benign	0.12
R7672:Ugt3a1	UTSW	15	9310693	nonsense	probably null
R7840:Ugt3a1	UTSW	15	9311817	missense	probably damaging	1.00
R7945:Ugt3a1	UTSW	15	9284175	critical splice donor site	probably null
R8105:Ugt3a1	UTSW	15	9306390	missense	probably benign	0.00
R8414:Ugt3a1	UTSW	15	9310583	missense	possibly damaging	0.82
R8981:Ugt3a1	UTSW	15	9311928	missense	probably benign	0.20
R9111:Ugt3a1	UTSW	15	9306247	missense	possibly damaging	0.69
R9451:Ugt3a1	UTSW	15	9292072	missense	probably benign	0.00
R9567:Ugt3a1	UTSW	15	9306284	missense	possibly damaging	0.82
R9657:Ugt3a1	UTSW	15	9280047	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCATAACATCATTCCAAATAGTGTG -3'
(R):5'- GCTTCTTGGTGAAATGAAAGAACATC -3'

Sequencing Primer
(F):5'- TCCAAATAGTGTGAAAAAGCTTCTC -3'
(R):5'- ACATCAGAATGTTCTTCACTCGG -3'

Posted On

2018-04-27